Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype

Ann Rheum Dis. 2021 Jul;80(7):e117. doi: 10.1136/annrheumdis-2019-216158. Epub 2019 Aug 24.
No abstract available

Keywords: FCAS2; autoinflammatory syndrome; periodic fever; variant of unknown significance.

Publication types

  • Letter
  • Comment

MeSH terms

  • Autoimmunity*
  • Hereditary Autoinflammatory Diseases*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Phenotype

Substances

  • Intracellular Signaling Peptides and Proteins
  • NLRP12 protein, human